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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 5
1988 6
1989 10
1990 9
1991 3
1992 2
1993 4
1994 1
1995 6
1996 2
1997 2
1998 2
1999 2
2000 6
2001 2
2002 6
2003 3
2004 10
2005 9
2006 7
2007 9
2008 5
2009 7
2010 12
2011 10
2012 13
2013 14
2014 10
2015 8
2016 11
2017 5
2018 1
2019 9
2020 6
2021 3
2022 3
2023 3
2024 1
2025 2

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213 results

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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: estienne m. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.
Solazzi R, Nanni G, Esposito S, Estienne M, Freri E, Zibordi F, Canafoglia L, Castellotti B, Granata T. Solazzi R, et al. Among authors: estienne m. Pediatr Neurol. 2023 Oct;147:24-27. doi: 10.1016/j.pediatrneurol.2023.06.012. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37542971
TP53 mutations at codon 234 are associated with chlorambucil treatment in chronic lymphocytic leukemia.
Lazarian G, Theves F, Hormi M, Letestu R, Eclache V, Bidet A, Cornillet-Lefebvre P, Davi F, Delabesse E, Estienne MH, Etancelin P, Kosmider O, Laibe S, Lode L, Muller M, Nadal N, Naguib D, Pastoret C, Poulain S, Sujobert P, Veronese L, Imache S, Lefebvre V, Cymbalista F, Baran-Marszak F, Soussi T; French Innovative Leukemia Organisation (FILO). Lazarian G, et al. Among authors: estienne mh. Am J Hematol. 2022 Apr;97(4):E159-E162. doi: 10.1002/ajh.26479. Epub 2022 Feb 1. Am J Hematol. 2022. PMID: 35083778 Free article. No abstract available.
Scurvy hidden behind neuropsychiatric symptoms.
Estienne M, Bugiani M, Bizzi A, Granata T. Estienne M, et al. Neurol Sci. 2011 Dec;32(6):1091-3. doi: 10.1007/s10072-011-0680-7. Epub 2011 Jul 28. Neurol Sci. 2011. PMID: 21796430
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S. Cigoli MS, et al. Among authors: estienne m. PLoS One. 2014 Oct 29;9(10):e110438. doi: 10.1371/journal.pone.0110438. eCollection 2014. PLoS One. 2014. PMID: 25354366 Free PMC article.
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.
Lazarian G, Leroy B, Theves F, Hormi M, Letestu R, Eclache V, Tueur G, Ameur A, Bidet A, Cornillet-Lefebvre P, Davi F, Delabesse E, Estienne MH, Etancelin P, Kosmider O, Laibe S, Muller M, Nadal N, Naguib D, Pastoret C, Poulain S, Sujobert P, Veronese L, Imache S, Lefebvre V, Cymbalista F, Baran-Marszak F, Soussi T; French Innovative Leukemia Organization (FILO). Lazarian G, et al. Among authors: estienne mh. Hum Mutat. 2023 May 9;2023:4880113. doi: 10.1155/2023/4880113. eCollection 2023. Hum Mutat. 2023. PMID: 40225169 Free PMC article.
213 results